Extended Data Fig. 1: Counts of de novo variants in the NDD cohort.
From: Hotspots of human mutation point to clonal expansions in spermatogonia
(a) Numbers of de novo missense variants stratified by recurrence. Genes harboring variants occurring >10 times in the cohort are shown in blue. (b) Numbers of de novo loss-of-function variants aggregated by gene stratified by recurrence. (c) Scatter plot of observed vs. expected de novo loss-of-function variant counts in the NDD cohort. LoF-1 set genes are shown in red; LoF-2 set genes are shown in purple. Upper bound of disease ascertainment in Eq. (1) given by the lower bound of prevalence of 1% is shown as a dashed line.
